EPB42-Related Hereditary Spherocytosis
Seattle, United States. In Unknown Journal, 13 Apr 2014
DISEASE CHARACTERISTICS: EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic non-immune hemolytic anemia that is usually of mild to moderate severity.
Protein 4.2: a complex linker.
Bristol, United Kingdom. In Blood Cells Mol Dis, 2009
Current understanding of protein 4.2, its known interactions & implications of protein 4.2 deficiency are reviewed. A new speculative "open" homology structure for the the active, membrane associated form is proposed. Review.
[Molecular mechanism of hereditary spherocytosis].
Laizhou, China. In Pol Merkur Lekarski, 2006
Hereditary spherocytosis stems from mutations in one of the genes encoding ankyrin-1 (ANKI), alpha spectrin (SPTA1) and beta spectrin (SPTB), the anion exchanger 1 (SLC4A 1), and protein 4.2 (EPB42).
Red blood cell membrane defects.
Foggia, Italy. In Rev Clin Exp Hematol, 2003
The mutations of most cases of HS are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode for ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively.
Molecular basis of red cell membrane disorders.
Le Kremlin-Bicêtre, France. In Acta Haematol, 2001
The mutations of most cases of hereditary spherocytosis (HS) are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively.